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Article

Neonatal Kabuki syndrome caused by KMT2D mutation: A case report.

Medicine - 15 Dec 2023

Li Zhang, Ning Zou

Abstract excerpt

BACKGROUND: Kabuki syndrome (KS) is an autosomal dominant inherited syndrome that involves multiple organs and systems. Gene mutation is the main cause of KS. The reported mutations in X-linked histone H3 lysine 4 methylase (KMT2D) and KDM6A genes are 2 relatively clear pathogenic pathways. In this paper, we report a case of KS with neonatal hypoglycemia and special features caused by KMT2D gene mutation...

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Identifiers

PMID: 38115267
DOI: 10.1097/MD.0000000000036681
PMCID: PMC10727567

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